X-linked intellectual disability-craniofacioskeletal syndrome
ORPHA:163979DiseaseUnknownAntenatal, Infancy, Neonatal
Фенотипы (HPO)48
Частый (30–79%)13
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000322Short philtrum
HP:0000331Short chin
HP:0000358Posteriorly rotated ears
HP:0000430Underdeveloped nasal alae
HP:0001256Intellectual disability, mild
HP:0001488Bilateral ptosis
HP:0001763Pes planus
HP:0001863Toe clinodactyly
HP:0004322Short stature
HP:0009237Short 5th finger
HP:0011833Overhanging nasal tip
Периодический (5–29%)35
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000238Hydrocephalus
HP:0000337Broad forehead
HP:0000453Choanal atresia
HP:0000494Downslanted palpebral fissures
HP:0000520Proptosis
HP:0000582Upslanted palpebral fissure
HP:0001187Hyperextensibility of the finger joints
HP:0001321Cerebellar hypoplasia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001782Bulbous tips of toes
HP:0001838Rocker bottom foot
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0002093Respiratory insufficiency
HP:0002170Intracranial hemorrhage
HP:0002682Broad skull
HP:0002777Tracheal stenosis
HP:0002901Hypocalcemia
HP:0002904Hyperbilirubinemia
HP:00046912-3 toe syndactyly
HP:0005306Capillary hemangioma
HP:0006610Wide intermamillary distance
HP:0008386Aplasia/Hypoplasia of the nails
HP:0008551Microtia
HP:0010511Long toe
HP:0011467Absent gallbladder
HP:0011611Interrupted aortic arch
HP:0030148Heart murmur
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 9 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)